SPIRAL GENETICS

Spiral Genetics offers advanced bioinformatics tools for population analysis, structural variant detection, and data compression. Anchored Assembly accurately detects SNPs, indels, and structural variants ranging from 10bp to 100kbp. Anchored Assembly uses data from HiSeq and MiSeq without special library prep. You can detect structural variants using your existing data. We optimize Anchored Assembly to ensure a very low false positive rate and reliably detect your variants at the rate that y... ou produce data. How does Anchored Assembly work? Spiral’s Anchored Assembly uses direct, de novo read overlap assembly to accurately detect SNPs, indels, and structural variants. Application of read overlap assembly to high-coverage whole genome data is a challenge because of its computational demands. Anchored Assembly reduces this computational complexity by focusing analysis on non-reference sequence regions. We map variant sequences to specific genome locations by “anchoring”, or matching the ends of the assembled variant, to unique sequences present in the reference genome. Assembly begins from these reference-anchored reads and traverses variant regions by constructing a read overlap graph. Anchored Asssembly is available via Cloud or Cluster. Features include: Read Alignment (BWA, Bowtie and T-Map), SNPs and Indels (SOAP and Maq), Assembly Based Variant Detection, Effect Prediction, Associated Gene and Pathways, Associated Phenotypes and Disease, KEGG, OMIM, LOVD and PharmGKB Links, Ensembl Browser Display, Upload/Download Common Data Formats, Cloud and Cluster Versions, Ion Torrent Plugin to stream data directly to Spiral CloudMore